Results 71 to 80 of about 471,463 (311)

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Burden, timing and causes of maternal and neonatal deaths and stillbirths in sub-Saharan Africa and South Asia: Protocol for a prospective cohort study [PDF]

, 2016
OBJECTIVES: The AMANHI mortality study aims to use harmonized methods, across eleven sites in eight countries in South Asia and sub–Saharan Africa, to estimate the burden, timing and causes of maternal, fetal and neonatal deaths. It will generate data to
Abdul Quaiyum, Mohammad, AMANHI study group, Kalonji, Michel, Ngaima, Seige, Nguwo, Andre, Otomba, John, Tshefu, Antoinette   +6 more
core   +1 more source

Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz, Christopher H. Thompson, Linda C. Laux, Alfred L. George Jr.   +3 more
wiley   +1 more source

Enteral lactoferrin supplementation for very preterm infants: a randomised placebo-controlled trial [PDF]

, 2019
Background Infections acquired in hospital are an important cause of morbidity and mortality in very preterm infants. Several small trials have suggested that supplementing the enteral diet of very preterm infants with lactoferrin, an antimicrobial ...
Ainsworth, S, Bartle, D, Batra, D, Baum, A, Berrington, J, Bowler, U, Boyle, E, Bradburn, M, Clarke, P, Cooke, R, Craig, S, Dorling, J, ELFINTI Grp, Ellis, S, Embleton, N, Ewer, A, Garg, S, Geethanath, R, Gibson, D, Gowda, G, Griffiths, J, Gupta, R, Halliday, H, Heath, P, Hellier, J, Holder, G, Hutchison, F, Janakiraman, S, Jenkins, P, Johnson, K, Johnson, M, Juszczak, E, Kennea, N, King, A, Kumar, Y, Ledwidge, M, Linsell, L, Mactier, H, Manjunatha, CM, Mannix, P, Matthes, J, McGuire, W, Millar, M, Murray, D, Oddie, S, Ohadike, P, Partlett, C, Patel, M, Peters, C, Piling, E, Quine, D, Reynolds, P, Roehr, C, Scorrer, T, Story, I, Subhedar, N, Vailcutz, R, Vargova, M, Vasu, V, Yates, H   +59 more
core   +1 more source

Neonatal Stroke Outcome

Pediatric Neurology Briefs, 1988
The clinical outcome of 17 children, 1 to 11 years of age, who experienced cerebral artery infarctions as neonates has been studied in the Depts of Pediatrics and Neurology, Univ of Kentucky Med Center, Lexington, Kentucky.
openaire   +3 more sources

Onasemnogene Abeparvovec in Type I Spinal Muscular Atrophy: 24‐Month Follow‐Up From the Italian Registry

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Onasemnogene abeparvovec (OA) is an AAV9‐based gene therapy for spinal muscular atrophy type I (SMA I). Real‐world outcomes show increased response variability compared to clinical trials, and follow‐up data beyond 12–18 months are limited.
Marika Pane, Giorgia Coratti, Chiara Cutrì, Antonio Varone, Riccardo Masson, Adele D'Amico, Valeria Sansone, Sonia Messina, Federica Ricci, Chiara Ticci, Claudio Bruno, Caterina Agosto, Francesca Benedetti, Antonella Pini, Sabrina Siliquini, Massimiliano Filosto, Alberto Zambon, Ilaria Bitetti, Maria Rosaria Manna, Claudia Dosi, Riccardo Zanin, Stefano Parravicini, Roberto De Sanctis, Giulia Stanca, Michela Catteruccia, Michele Tosi, Irene Mizzoni, Emilio Albamonte, Valentina Franchino, Maria Sframeli, Ilaria Cavallina, Elena Procopio, Michele Sacchini, Simone Morando, Noemi Brolatti, Federica Trucco, Gaia Scarpini, Elena Briganti, Beatrice Berti, Concetta Palermo, Daniela Leone, Stefano C. Previtali, Eugenio Mercuri, the ITASMAC working group   +43 more
wiley   +1 more source

Perinatal mortality and neonatal and maternal outcome per gestational week in term pregnancies: A registry‐based study

Acta Obstetricia et Gynecologica Scandinavica, 2023
Introduction Human pregnancy is considered term from 37+0/7 to 41+6/7 weeks. Within this range, both maternal, fetal and neonatal risks may vary considerably.
Jérôme Cornette, Catharina J. van derStok, Irwin K. M. Reiss, René F. Kornelisse, Eline van derWilk, Arie Franx, Yves Jacquemyn, Eric A. P. Steegers, Loes C. M. Bertens   +8 more
doaj   +1 more source

Effects of treatment in women with gestational diabetes mellitus : systematic review and meta-analysis [PDF]

, 2010
Objective: To summarise the benefits and harms of treatments for women with gestational diabetes mellitus. Design: Systematic review and meta-analysis of randomised controlled trials.
Horvath, Karl, Koch, Klaus, Jeitler, Klaus, Matyas, Eva, Bender, Ralf, Bastian, Hilda, Lange, Stefan, Siebenhofer-Kroitzsch, Andrea   +7 more
core   +1 more source

Building a Framework for Sexual and Reproductive Health Care in the Rheumatology Context: Content and Approaches

Arthritis Care &Research, EarlyView.
People with systemic autoimmune and rheumatic diseases (SARDs) are at higher risk than the general population of experiencing adverse pregnancy and perinatal outcomes such as preeclampsia, intrauterine growth restriction, and maternal and/or fetal death.
Mehret Birru Talabi, Sonya Borrero
wiley   +1 more source

Inhaled nitric oxide as an adjunct to neonatal resuscitation in premature infants: a pilot, double blind, randomized controlled trial. [PDF]

, 2020
BackgroundNitric oxide (NO) plays an important role in normal postnatal transition. Our aims were to determine whether adding inhaled NO (iNO) decreases supplemental oxygen exposure in preterm infants requiring positive pressure ventilation (PPV) during ...
Anderson, Michael, Dannaway, Douglas, Helmbrecht, Ashley, Lakshminrusimha, Satyan, Manfredo, Amy, McCoy, Michael, Noori, Shahab, Riley, Julee, Sekar, Krishnamurthy, Szyld, Edgardo, Wlodaver, Anne   +10 more
core